Journal of Korean Neurosurgical Society

  • 제42권6호
  • /
  • Pages.436-440
  • /
  • 2007
  • /
  • 2005-3711(pISSN)
  • /
  • 1598-7876(eISSN)
대한신경외과학회 (The Korean Neurosurgical Society)
권호 표지

Spinal Cord Hemangioblastoma : Diagnosis and Clinical Outcome after Surgical Treatment

  • Na, Joon-Ho (Department of Neurosurgery Samsung Medical Center Sungkyunkwan University School of Medicine) ;
  • Kim, Hyeong-Soo (Department of Neurosurgery Sungmin Hospital) ;
  • Eoh, Whan (Department of Neurosurgery Samsung Medical Center Sungkyunkwan University School of Medicine) ;
  • Kim, Jong-Hyun (Department of Neurosurgery Samsung Medical Center Sungkyunkwan University School of Medicine) ;
  • Kim, Jong-Soo (Department of Neurosurgery Samsung Medical Center Sungkyunkwan University School of Medicine) ;
  • Kim, Eun-Sang (Department of Neurosurgery Samsung Medical Center Sungkyunkwan University School of Medicine)
  • 발행 : 2007.12.28
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Objective : Spinal cord hemangioblastoma is an uncommon vascular neoplasm with a benign nature and is associated with von Hippel-Lindau (VHL) disease in 20-30% of patients. Total removal of these tumors without significant neurological deficit remains a great challenge. The purpose of this study was to investigate the efficacy of VHL mutation analysis and to evaluate surgical outcome of patients with spinal cord hemangioblastomas. Methods : This study included nine patients treated for spinal cord hemangioblastomas at our institute between December 1994 and March 2006. There were four male and five female patients. Mean age was 37.8 years. The mean follow-up period was 22.4 months. Magnetic resonance imaging (MRI) of the complete neuraxis was done in all cases and VHL mutation analysis was performed in three cases for a definite diagnosis. Results : Six patients had intramedullary tumor, and the remaining patients had intradural extramedullary lesions. Five patients were associated with VHL disease. The von Hippel-Lindau mutation analysis was done in three patients and two of them showed VHL gene abnormality. Tumors were located in the cervical cord in five cases and in the thoracic cord in four cases. All patients underwent surgical intervention, and total removal was achieved in six cases. All patients showed improvement or, at least, clinically stationary state. Surgical complications did not develop in any cases. Conclusion : Spinal hemangioblastoma in this series has been safely and effectively removed via a posterior approach. Postoperatively, clinical outcome was excellent in the majority of cases. The VHL mutation analysis was useful in patients with family history and in those with multiple hemangioblastomas.

키워드

참고문헌

  1. Browne TR, Adams RD, Roberson GH : Hemangioblastoma of the spinal cord. Review and report of five cases. Arch Neurol 33 : 435- 441, 1976 https://doi.org/10.1001/archneur.1976.00500060041009
  2. Catapano D, Muscarella LA, Guarnieri V, Zelante L, D'Angelo VA, D'Agruma L : Hemangioblastomas of central nervous system : molecular genetic analysis and clinical management. Neurosurgery 56 : 1215- 1221; discussion 1221, 2005 https://doi.org/10.1227/01.NEU.0000159646.15026.D6
  3. Constans JP, Meder F, Maiuri F, Donzelli R, Spaziante R, de Divitiis E : Posterior fossa hemangioblastomas. Surg Neurol 25 : 269-275, 1986 https://doi.org/10.1016/0090-3019(86)90238-7
  4. Cristante L, Herrmann HD : Surgical management of intramedullary hemangioblastoma of the spinal cord. Acta Neurochir (Wien) 141 : 333-339; discussion 339-340, 1999 https://doi.org/10.1007/s007010050308
  5. Filling-Katz MR, Choyke PL, Oldfield E, Charnas L, Patronas NJ, Glenn GM, et al : Central nervous system involvement in von Hippel- Lindau disease. Neurology 41 : 41-46, 1991 https://doi.org/10.1212/WNL.41.1.41
  6. Gallou C, Chauveau D, Richard S, Joly D, Giraud S, Olschwang S, et al : Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. Hum Mutat 24 : 215-224, 2004 https://doi.org/10.1002/humu.20082
  7. Glenn GM, Linehan WM, Hosoe S, Latif F, Yao M, Choyke P, et al : Screening for von Hippel-Lindau disease by DNA polymorphism analysis. JAMA 267 : 1226-1231, 1992 https://doi.org/10.1001/jama.267.9.1226
  8. Humphrey JS, Klausner RD, Linehan WM : von Hippel-Lindau syndrome : hereditary cancer arising from inherited mutations of the VHL tumor suppressor gene. Cancer Treat Res 88 : 13-39, 1996
  9. Hurth M : Intraspinal hemangioblastomas. Neurochiurgie 21 Suppl 1 : 1-136, 1975
  10. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al : Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260 : 1317-1320, 1993 https://doi.org/10.1126/science.8493574
  11. Lee DK, Choe WJ, Kim DY, Lee CH, Chung CK, Kim HJ : Clinical analysis of spinal cord hemangioblastoma. J Korean Neurosurg Soc 30 : 1291-1299, 2001
  12. Linehan WM, Lerman MI, Zbar B : Identification of the von Hippel- Lindau (VHL) gene. Its role in renal cancer. JAMA 273 : 564-570, 1995 https://doi.org/10.1001/jama.273.7.564
  13. Lonser RR, Weil RJ, Wanebo JE, DeVroom HL, Oldfield EH : Surgical management of spinal cord hemangioblastomas in patients with von Hippel-Lindau disease. J Neurosurg 98 : 106-116, 2003 https://doi.org/10.3171/jns.2003.98.1.0106
  14. Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, et al : A genetic register for von Hippel-Lindau disease. J Med Genet 33 : 120-127, 1996 https://doi.org/10.1136/jmg.33.2.120
  15. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, et al : Clinical features and natural history of von Hippel-Lindau disease. Q J Med 77 : 1151-1163, 1990 https://doi.org/10.1093/qjmed/77.2.1151
  16. McCormick PC, Torres R, Post KD, Stein BM : Intramedullary ependymoma of the spinal cord. J Neurosurg 72 : 523-532, 1990 https://doi.org/10.3171/jns.1990.72.4.0523
  17. Melmon KL, Rosen SW : Lindau's Disease. Review of the literature and study of a large kindred. Am J Med 36 : 595-617, 1964 https://doi.org/10.1016/0002-9343(64)90107-X
  18. Murota T, Symon L : Surgical management of hemangioblastoma of the spinal cord : a report of 18 cases. Neurosurgery 25 : 699-707; discussion 708, 1989 https://doi.org/10.1227/00006123-198911000-00003
  19. Neumann HP, Eggert HR, Scheremet R, Schumacher M, Mohadjer M, Wakhloo AK, et al : Central nervous system lesions in von Hippel- Lindau syndrome. J Neurol Neurosurg Psychiatry 55 : 898-901, 1992 https://doi.org/10.1136/jnnp.55.10.898
  20. Neumann HP, Eggert HR, Weigel K, Friedburg H, Wiestler OD, Schollmeyer P : Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome. J Neurosurg 70 : 24-30, 1989 https://doi.org/10.3171/jns.1989.70.1.0024
  21. Pan L, Wang EM, Wang BJ, Zhou LF, Zhang N, Cai PW, et al : Gamma knife radiosurgery for hemangioblastomas. Stereotact Funct Neurosurg 70 Suppl 1 : 179-186, 1998 https://doi.org/10.1159/000056420
  22. Rebner M, Gebarski SS : Magnetic resonance imaging of spinal-cord hemangioblastoma. AJNR Am J Neuroradiol 6 : 287-289, 1985
  23. Richard S, Campello C, Taillandier L, Parker F, Resche F : Haemangioblastoma of the central nervous system in von Hippel-Lindau disease. French VHL study group. J Intern Med 243 : 547-553, 1998 https://doi.org/10.1046/j.1365-2796.1998.00337.x
  24. Richard S, David P, Marsot-Dupuch K, Giraud S, Beroud C, Resche F : Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease. Neurosurg Rev 23 : 1-22; discussion 23-24, 2000 https://doi.org/10.1007/s101430050024
  25. Roonprapunt C, Silvera VM, Setton A, Freed D, Epstein FJ, Jallo GI : Surgical management of isolated hemangioblastomas of the spinal cord. Neurosurgery 49 : 321-327; discussion 327-328, 2001 https://doi.org/10.1097/00006123-200108000-00012
  26. Samii M, Klekamp J : Surgical results of 100 intramedullary tumors in relation to accompanying syringomyelia. Neurosurgery 35 : 865- 873; discussion 873, 1994 https://doi.org/10.1227/00006123-199411000-00010
  27. Silver ML, Hennigar G : Cerebellar hemangioma (hemangioblastoma) : a clinicopathological review of 40 cases. J Neurosurg 9 : 484-494, 1952 https://doi.org/10.3171/jns.1952.9.5.0484
  28. Solomon RA, Stein BM : Unusual spinal cord enlargement related to intramedullary hemangioblastoma. J Neurosurg 68 : 550-553, 1988 https://doi.org/10.3171/jns.1988.68.4.0550
  29. Sora S, Ueki K, Saito N, Kawahara N, Shitara N, Kirino T : Incidence of von Hippel-Lindau disease in hemangioblastoma patients : the University of Tokyo Hospital experience from 1954-1998. Acta Neurochir (Wien) 143 : 893-896, 2001 https://doi.org/10.1007/s007010170019
  30. Spetzger U, Gertalanffy H, Huffmann B, Mayfrank L, Reul J, Gilsbach JM : Hemangioblastomas of the spinal cord and the brainstem : diagnostic and therapeutic features. Neurosurg Rev 19 : 147-151, 1996 https://doi.org/10.1007/BF00512042
  31. Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, et al : Improved detection of germline mutations in the von Hippel- Lindau disease tumor suppressor gene. Hum Mutat 12 : 417-423, 1998 https://doi.org/10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO;2-K
  32. Trost HA, Seifert V, Stolke D : Advances in diagnosis and treatment of spinal hemangioblastomas. Neurosurg Rev 16 : 205-209, 1993 https://doi.org/10.1007/BF00304329
  33. Woodward ER, Buchberger A, Clifford SC, Hurst LD, Affara NA, Maher ER : Comparative sequence analysis of the VHL tumor suppressor gene. Genomics 65 : 253-265, 2000 https://doi.org/10.1006/geno.2000.6144
  34. Xu QW, Bao WM, Mao RL, Yang GY : Magnetic resonance imaging and microsurgical treatment of intramedullary hemangioblastoma of the spinal cord. Neurosurgery 35 : 671-675; discussion 675-676, 1994 https://doi.org/10.1227/00006123-199410000-00013
  35. Yasargil MG, Antic J, Laciga R, de Preux J, Fideler RW, Boone SC : The microsurgical removal of intramedullary spinal hemangioblastomas. Report of twelve cases and a review of the literature. Surg Neurol 3 : 141-148, 1976
  36. Yasui T, Hakuba A, Katsuyama J, Nishimura S : Microsurgical removal of intramedullary spinal cord tumors : report of 22 cases. Acta Neurochir Suppl (Wein) 43 : 9-12, 1988